부산대학교 도서관

Dekker, Jordy ; Schot, Rachel ; Aldinger, Kimberly A. ; Everman, David B. ; Washington, Camerun ; Jones, Julie R. ; Sullivan, Jennifer A. ; Spillmann, Rebecca C. ; Shashi, Vandana ; Vitobello, Antonio ; Denommé-Pichon, Anne-Sophie ; Mosca-Boidron, Anne-Laure ; Perrin, Laurence ; Auvin, Stéphane ; Zaki, Maha S. ; Gleeson, Joseph G. ; Meave, Naomi ; Wallace, Cassidy ; Nambot, Sophie ; Delanne, Julian ; Ruggiero, Sarah M. ; Helbig, Ingo ; Fitzgerald, Mark P. ; Leventer, Richard J. ; Grange, Dorothy K. ; Argilli, Emanuela ; Sherr, Elliott H. ; Prakash, Supraja ; Neilson, Derek E. ; Nicita, Francesco ; Sferra, Antonella ; Bertini, Enrico S. ; Aiello, Chiara ; Brockmann, Knut ; Kuranov, Alexander B. ; Kaulfuss, Silke ; Basit, Sulman ; Alluqmani, Majed ; Almatrafi, Ahmad ; Friedman, Jan M. ; Guimond, Colleen ; Mohammed, Faruq ; Sharma, Pooja ; Goel, Divya ; Wirth, Thomas ; Anheim, Mathieu ; Bahena, Paulina ; Koparir, Asuman ; Kolokotronis, Konstantinos ; Vona, Barbara ; Haaf, Thomas ; Kunstmann, Erdmute ; Maroofian, Reza ; Sczakiel, Henrike L. ; Boschann, Felix ; Misra-Isrie, Mala ; Louie, Raymond J. ; Stolerman, Elliot S. ; Sanchez-Lara, Pedro A. ; Mergler, Sandra ; Oegema, Renske ; Zarate, Yuri A. ; Kariminejad, Ariana ; Tajsharghi, Homa ; Zeidler, Shimriet ; Kievit, Anneke J.A. ; Bouman, Arjan ; Cappuccio, Gerarda ; Brunetti-Pierri, Nicola ; Stuurman, Kyra E. ; Swols, Dayna Morel ; Tekin, Mustafa ; Upadia, Jariya ; Martin, Donna M. ; Craven, Daniel ; Hiatt, Susan M. ; van de Pol, Laura A. ; D'Arco, Felice ; Margot, Henri ; Wilke, Martina ; Yousefi, Soheil ; Barakat, Tahsin Stefan ; van Veghel-Plandsoen, Monique M. ; Aronica, Eleonora ; Anink, Jasper ; Rogers, Stephen L. ; Slep, Kevin C. ; Doherty, Dan ; Dobyns, William B. ; Mancini, Grazia M.S.

In The American Journal of Human Genetics 2 October 2025 112(10):2363-2380

Mio Aerden; Anne-Sophie Denommé-Pichon; Dominique Bonneau; Ange-Line Bruel; Julian Delanne; Bénédicte Gérard; Benoît Mazel; Christophe Philippe; Lucile Pinson; Clément Prouteau; Audrey Putoux; Frédéric Tran Mau-Them; Éléonore Viora-Dupont; Antonio Vitobello; Alban Ziegler; Amélie Piton; Bertrand Isidor; Christine Francannet; Pierre-Yves Maillard; Sophie Julia; Anais Philippe; Elise Schaefer; Saskia Koene; Claudia Ruivenkamp; Mariette Hoffer; Eric Legius; Miel Theunis; Boris Keren; Julien Buratti; Perrine Charles; Thomas Courtin; Mala Misra-Isrie; Mieke van Haelst; Quinten Waisfisz; Dagmar Wieczorek; Ariane Schmetz; Theresia Herget; Fanny Kortüm; Jasmin Lisfeld; François-Guillaume Debray; Nuria C. Bramswig; Isis Atallah; Heidi Fodstad; Guillaume Jouret; Berta Almoguera; Saoud Tahsin-Swafiri; Fernando Santos-Simarro; Maria Palomares-Bralo; Vanesa López-González; Maria Kibaek; Pernille M. Tørring; Alessandra Renieri; Lucia Pia Bruno; Katrin Õunap; Monica Wojcik; Tzung-Chien Hsieh; Peter Krawitz; Hilde Van Esch

Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, 'The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468. https://doi.org/10.1038/s41431-023-01307-x

van der Laan, Liselot ; Karimi, Karim ; Rooney, Kathleen ; Lauffer, Peter ; McConkey, Haley ; Caro, Pilar ; Relator, Raissa ; Levy, Michael A. ; Bhai, Pratibha ; Mignot, Cyril ; Keren, Boris ; Briuglia, Silvana ; Sobering, Andrew K. ; Li, Dong ; Vissers, Lisenka E.L.M. ; Dingemans, Alexander J.M. ; Valenzuela, Irene ; Verberne, Eline A. ; Misra-Isrie, Mala ; Zwijnenburg, Petra J.G. ; Waisfisz, Quinten ; Alders, Mariëlle ; Sailer, Sebastian ; Schaaf, Christian P. ; Mannens, Marcel M.A.M. ; Sadikovic, Bekim ; van Haelst, Mieke M. ; Henneman, Peter

In Genetics in Medicine March 2024 26(3)

Richelle A. C. M. Olde Keizer; Abderrahim Marouane; Wilhelmina S. Kerstjens-Frederikse; A. Chantal Deden; Klaske D. Lichtenbelt; Tinneke Jonckers; Marieke Vervoorn; Maaike Vreeburg; Lidewij Henneman; Linda S. de Vries; Richard J. Sinke; Rolph Pfundt; Servi J. C. Stevens; Peter Andriessen; Richard A. van Lingen; Marcel Nelen; Hans Scheffer; Daphne Stemkens; Cor Oosterwijk; Hans Kristian Ploos van Amstel; Willem P. de Boode; Wendy A. G. van Zelst-Stams; Geert W. J. Frederix; Lisenka E. L. M. Vissers; L Henneman; M M van Haelst; E A Sistermans; M C Cornel; M Misra-Isrie; M M A M Mannens; Q Waisfisz; J M van Hagen; A S Brooks; T S Barakat; E H Hoefsloot; R A van Lingen; C A L Ruivenkamp; A van Haeringen; S Koene; G W E Santen; J W Rutten; B de Koning; S J C Stevens; A van den Wijngaard; M Sinnema; A P A Stegmann; M Vreeburg; M Vervoorn; P Andriessen; D Kasteel; E M Adang; A C Deden; H G Brunner; W P de Boode; H G Yntema; H Scheffer; W van Zelst-Stams; R Pfundt; T Kleefstra; A Marouane; L E L M Vissers; T Rigter; W Rodenburg; M A Swertz; V V AM Knoers; W S Kerstjens-Frederikse; R J Sinke; K J van der Velde; I M van Langen; M E van Gijn; J P van Tintelen; L S de Vries; G W J Frederix; J K Ploos van Amstel; K D Lichtenbelt; R A C M Olde Keizer; R Oegema; C Oosterwijk; D Stemkens

Eur J Pediatr
on behalf of RADICON-NL consortium 2023, 'Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder : results of a prospective multicenter clinical utility study in the Netherlands', European Journal of Pediatrics, vol. 182, no. 6, pp. 2683-2692. https://doi.org/10.1007/s00431-023-04909-1
European Journal of Pediatrics, 182, 6, pp. 2683-2692
Eur J Pediatr.

Rooney, Kathleen ; van der Laan, Liselot ; Trajkova, Slavica ; Haghshenas, Sadegheh ; Relator, Raissa ; Lauffer, Peter ; Vos, Niels ; Levy, Michael A. ; Brunetti-Pierri, Nicola ; Terrone, Gaetano ; Mignot, Cyril ; Keren, Boris ; de Villemeur, Thierry B. ; Volker-Touw, Catharina M.L. ; Verbeek, Nienke ; van der Smagt, Jasper J. ; Oegema, Renske ; Brusco, Alfredo ; Ferrero, Giovanni B. ; Misra-Isrie, Mala ; Hochstenbach, Ron ; Alders, Mariëlle ; Mannens, Marcel M.A.M. ; Sadikovic, Bekim ; van Haelst, Mieke M. ; Henneman, Peter

In Genetics in Medicine August 2023 25(8)

Xian, Julie; Parthasarathy, Shridhar; Ruggiero, Sarah M; Balagura, Ganna; Fitch, Eryn; Helbig, Katherine; Gan, Jing; Ganesan, Shiva; Kaufman, Michael C; Ellis, Colin A; Lewis-Smith, David; Galer, Peter; Cunningham, Kristin; O'Brien, Margaret; Cosico, Mahgenn; Baker, Kate; Darling, Alejandra; Veiga De Goes, Fernanda; El Achkar, Christelle M; Doering, Jan Henje; Furia, Francesca; García-Cazorla, Ángeles; Gardella, Elena; Geertjens, Lisa; Klein, Courtney; Kolesnik-Taylor, Anna; Lammertse, Hanna; Lee, Jeehun; Mackie, Alexandra; Misra-Isrie, Mala; Olson, Heather; Sexton, Emma; Sheidley, Beth; Smith, Lacey; Sotero, Luiza; Stamberger, Hannah; Syrbe, Steffen; Thalwitzer, Kim Marie; Van Berkel, Annemiek; Van Haelst, Mieke; Yuskaitis, Christopher; Weckhuysen, Sarah; Prosser, Ben; Son Rigby, Charlene; Demarest, Scott; Pierce, Samuel; Zhang, Yuehua; Møller, Rikke S; Bruining, Hilgo; Poduri, Annapurna; Zara, Federico; Verhage, Matthijs; Striano, Pasquale; Helbig, Ingo

Brain
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
instname
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, el Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, 'Assessing the landscape of STXBP1-related disorders in 534 individuals', Brain, vol. 145, no. 5, pp. 1668-1683. https://doi.org/10.1093/brain/awab327

R. Koster; R. D. Brandão; D. Tserpelis; C. E. P. van Roozendaal; C. N. van Oosterhoud; K. B. M. Claes; A. D. C. Paulussen; M. Sinnema; M. Vreeburg; V. van der Schoot; C. T. R. M. Stumpel; M. P. G. Broen; L. Spruijt; M. C. J. Jongmans; S. A. J. Lesnik Oberstein; A. S. Plomp; M. Misra-Isrie; F. A. Duijkers; M. J. Louwers; R. Szklarczyk; K. W. J. Derks; H. G. Brunner; A. van den Wijngaard; M. van Geel; M. J. Blok

npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)

Maia, Nuno; Ibarluzea, Nekane; Misra-Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosário; Marcelis, Carlo L. M.; Keski-Filppula, Riikka; Guitart, Maria; Gabau, Elisabeth; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa-Aranzasti, Amaia; Cueto-González, Anna Mª; Chhouk, Brian H.; Yeh, Rebecca C.; Neil, Jennifer E.; Abu-Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W.; Császár, Andrea; Kárteszi, Judit; Bessenyei, Beáta; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M.; de Brouwer, Arjan P. M.; Universitat Autònoma de Barcelona

Simon J. Houtman; Hanna C. A. Lammertse; Annemiek A. van Berkel; Ganna Balagura; Elena Gardella; Jennifer R. Ramautar; Chiara Reale; Rikke S. Møller; Federico Zara; Pasquale Striano; Mala Misra-Isrie; Mieke M. van Haelst; Marc Engelen; Titia L. van Zuijen; Huibert D. Mansvelder; Matthijs Verhage; Hilgo Bruining; Klaus Linkenkaer-Hansen

Frontiers in Physiology, Vol 12 (2021)

van der Laan, Liselot; Rooney, Kathleen; Alders, Marielle; Relator, Raissa; McConkey, Haley; Kerkhof, Jennifer; Levy, Michael A.; Lauffer, Peter; Aerden, Mio; Theunis, Miel; Legius, Eric; Tedder, Matthew L.; Vissers, Lisenka E.LM.; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette J.; Wieczorek, Dagmar; Bramswig, Nuria C.; Herget, Theresia; Lopez Gonzalez, Vanesa; Santos-Simarro, Fernando; Torring, Pernille M.; Denomme-Pichon, Anne-Sophie; Isidor, Bertrand; Keren, Boris; Julia, Sophie; Schaefer, Elise; Francannet, Christine; Maillard, Pierre-Yves; Misra-Isrie, Mala; Van Esch, Hilde; Mannens, Marcel M.AM.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter

Int J Mol Sci
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
International Journal of Molecular Sciences; Volume 23; Issue 22; Pages: 13664
van der Laan, L, Rooney, K, Alders, M, Relator, R, McConkey, H, Kerkhof, J, Levy, M A, Lauffer, P, Aerden, M, Theunis, M, Legius, E, Tedder, M L, Vissers, L E L M, Koene, S, Ruivenkamp, C, Hoffer, M J V, Wieczorek, D, Bramswig, N C, Herget, T, González, V L P, Santos-Simarro, F, Tørring, P M, Denomme-Pichon, A-S, Isidor, B, Keren, B, Julia, S, Schaefer, E, Francannet, C, Maillard, P-Y, Misra-Isrie, M, van Esch, H, Mannens, M M A M, Sadikovic, B, van Haelst, M M & Henneman, P 2022, 'Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome', International Journal of Molecular Sciences, vol. 23, no. 22, 13664. https://doi.org/10.3390/ijms232213664
International Journal of Molecular Sciences, 23, 22

Maia N; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.; Ibarluzea N; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Misra-Isrie M; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Koboldt DC; Steve and Cindy Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Marques I; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.; Soares G; Unidade de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal.; Santos R; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.; Marcelis CLM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Keski-Filppula R; Department of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Guitart M; Paediatric Unit, ParcTaulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, I3PTUniversitat Autònoma de Barcelona, Sabadell, Spain.; Gabau Vila E; Paediatric Unit, ParcTaulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, I3PTUniversitat Autònoma de Barcelona, Sabadell, Spain.; Lehman A; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Hickey S; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Mori M; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Nationwide Children's Hospital, Columbus, Ohio, USA.; Terhal P; Division Laboratories, Pharmacy and Biomedical Genetics, Wilhelmina Children's Hospital, Utrecht, The Netherlands.; Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Chhouk BH; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.; Yeh RC; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.; Neil JE; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.; Abu-Libde B; Makassed Hospital, Jerusalem, Israel.; Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Elting MW; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Császár A; Paediatric Ward, Hospital of Zala County, Zalaegerszeg, Hungary.; Kárteszi J; Genetic Counselling, Hospital of Zala County, Zalaegerszeg, Hungary.; Bessenyei B; Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.; van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Jorge P; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.; van Hagen JM; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Furia, F.; Sullivan, K. R.; Barbagallo, P.; Boland, M. J.; Ben Zeev, B.; Cossu, A.; Cunningham, K.; Darling, A.; Darra, F.; Driedger, J-H; Garcia-Cazorla, A.; Misra-Isrie, M.; Papastamatis, K.; Pierce, S.; Ruggiero, S. M.; Syrbe, S.; Thalwitzer, K. M.; Ostergaard, M.; Helbig, I.; Sorensen, J. B.; Moller, R. S.; Gardella, E.

EPILEPSIA; NOV 2024, 65 p318-p319, 2p. Supplement: 1

Balagura, G.; Stamberger, H.; Furia, F.; Padilla, A. Soto; Ben Zeev, B.; Bruining, H.; Darling, A.; Garcia-Cazorla, A.; Gardella, E.; Milh, M.; Misra-Isrie, M.; Moller, R. S.; Striano, P.; Syrbe, S.; Thalwitzer, K.; Verhage, M.; Weckhuysen, S.

EPILEPSIA; NOV 2024, 65 p314-p315, 2p. Supplement: 1

van Berkel AA; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Functional Genomics, Department of Human Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Universitair Medische Centra, Amsterdam, the Netherlands.; Lammertse HCA; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Functional Genomics, Department of Human Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Universitair Medische Centra, Amsterdam, the Netherlands.; Öttl M; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Koopmans F; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Department of Molecular and Cellular Neurobiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Misra-Isrie M; Functional Genomics, Department of Human Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Universitair Medische Centra, Amsterdam, the Netherlands.; Department of Human Genetics, Clinical Genetics Section, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Meijer M; Functional Genomics, Department of Human Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Universitair Medische Centra, Amsterdam, the Netherlands.; Dilena R; Clinical Neurophysiology Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; van Hasselt PM; Department of Metabolic Diseases, Division of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.; Engelen M; Department of (Pediatric) Neurology, Amsterdam Universitair Medische Centra, Amsterdam, the Netherlands.; van Haelst M; Department of Human Genetics, Clinical Genetics Section, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Smit AB; Department of Molecular and Cellular Neurobiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; van der Sluis S; Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Department of Child and Adolescence Psychiatry, Section of Complex Trait Genetics, Amsterdam Universitair Medische Centra, Amsterdam, the Netherlands.; Toonen RF; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Verhage M; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Functional Genomics, Department of Human Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Universitair Medische Centra, Amsterdam, the Netherlands.

Publisher: Elsevier Inc. on behalf of Society of Biological Psychiatry Country of Publication: United States NLM ID: 9918227369306676 Publication Model: eCollection Cited Medium: Internet ISSN: 2667-1743 (Electronic) Linking ISSN: 26671743 NLM ISO Abbreviation: Biol Psychiatry Glob Open Sci Subsets: PubMed not MEDLINE

Schieving JH; Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands.; de Bot ST; Leiden University Medical Center, Department of Neurology, Leiden, The Netherlands.; van de Pol LA; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, The Netherlands.; Wolf NI; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, The Netherlands.; Amsterdam Neuroscience, Amsterdam, The Netherlands.; Brilstra EH; University Medical Center Utrecht, Department of Medical Genetics, Utrecht, The Netherlands.; Frints SG; Maastricht University Medical Center+, Department of Clinical Genetics, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW, School for Oncology, FHML, Maastricht University, The Netherlands.; van Gaalen J; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center and Nijmegen, The Netherlands.; Misra-Isrie M; Amsterdam University Medical Center, Department of Clinical Genetics, Amsterdam, The Netherlands.; Pennings M; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.; Verschuuren-Bemelmans CC; University Medical Center Groningen, University of Groningen, Department of Genetics, Groningen, The Netherlands.; Kamsteeg EJ; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.; van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center and Nijmegen, The Netherlands.; Willemsen MA; Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Maia, Nuno; Ibarluzea, Nekane; Misra-Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosario; Marcelis, Carlo L. M.; Keski-Filppula, Riikka; Guitart, Miriam; Vila, Elisbeth Gabau; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa-Aranzasti, Amaia; Cueto-Gonzalez, Anna Ma; Chhouk, Brian H.; Yeh, Rebecca C.; Neil, Jennifer E.; Abu-Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W.; Csaszar, Andrea; Karteszi, Judit; Bessenyei, Beata; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M.; de Brouwer, Arjan P. M.

MEDICINE; MAR 31 2023, 102 13, 2p.

Maia, Nuno; Ibarluzea, Nekane; Misra-Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosário; Marcelis, Carlo L. M.; Keski-Filppula, Riikka; Guitart, Maria; Gabau, Elisabeth; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa-Aranzasti, Amaia; Cueto-González, Anna Mª; Chhouk, Brian H.; Yeh, Rebecca C.; Neil, Jennifer E.; Abu-Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W.; Császár, Andrea; Kárteszi, Judit; Bessenyei, Beáta; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M.; de Brouwer, Arjan P. M.

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